Variant report

Variant	rs61430496
Chromosome Location	chr8:62609230-62609231
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62560449..62562337-chr8:62608012..62610402,2	K562	blood:
2	chr8:62608231..62611173-chr8:62624445..62626992,3	K562	blood:
3	chr8:62609192..62610719-chr8:62617736..62619435,2	MCF-7	breast:
4	chr8:62607580..62609927-chr8:62611220..62613385,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10957196	0.96[EUR][1000 genomes]
rs11775077	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11786863	0.96[EUR][1000 genomes]
rs11787089	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11990408	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11997478	0.96[EUR][1000 genomes]
rs12679293	0.96[EUR][1000 genomes]
rs16918887	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17546883	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3765162	0.97[EUR][1000 genomes]
rs55720422	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6471964	0.96[EUR][1000 genomes]
rs6471969	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7015761	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016408	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72659015	0.96[EUR][1000 genomes]
rs72659032	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72659034	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72659056	0.87[AMR][1000 genomes]
rs72659057	0.85[AMR][1000 genomes]
rs72659059	0.85[AMR][1000 genomes]
rs7812552	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7816208	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7822988	0.96[EUR][1000 genomes]
rs7825861	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7834478	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7836999	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7841144	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
8	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:62603000-62609400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:62603000-62609600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:62603000-62611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
14	chr8:62603000-62612400	Weak transcription	HSMM	muscle
15	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
20	chr8:62603200-62609400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:62603200-62610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:62603200-62610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:62604200-62611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
25	chr8:62604400-62610600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:62604600-62612400	Weak transcription	Fetal Heart	heart
27	chr8:62605400-62612400	Enhancers	K562	blood
28	chr8:62605800-62612400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:62605800-62612400	Weak transcription	Spleen	Spleen
30	chr8:62605800-62612600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:62605800-62612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:62606000-62609800	Weak transcription	HepG2	liver
33	chr8:62606000-62612600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:62606000-62613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:62606800-62611200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:62606800-62611400	Weak transcription	NH-A	brain
37	chr8:62607000-62610000	Weak transcription	Ovary	ovary
38	chr8:62607000-62610800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:62607000-62612800	Weak transcription	HMEC	breast
40	chr8:62607200-62609400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:62607200-62609800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:62607200-62610800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:62607200-62619000	Weak transcription	NHEK	skin
44	chr8:62607600-62609400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:62607600-62609600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:62607600-62609800	Enhancers	Adipose Nuclei	Adipose
47	chr8:62607800-62610600	Enhancers	Left Ventricle	heart
48	chr8:62607800-62612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:62607800-62612400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:62608200-62611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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